Genomic Map
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Target Gene Details
Entrez Gene ID: | 583 |
Gene Name: | Bardet-Biedl syndrome 2 |
Gene Aliases: |
BBS, RP74 |
Location: |
Chr.16:56470403-56520096 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| BBS2 | NM_031885.3 | 17 | 2337 | NP_114091.3 |
| XM_005256080.2 | 17 | 2336 | XP_005256137.1 | |
| AB208905.1 | 12 | 5634 | BAD92142.1 | |
| AF342736.1 | 17 | 2524 | AAK28552.1 | |
| AK027635.1 | 17 | 2265 | BAB55252.1 | |
| AK127290.1 | 4 | 3591 | ||
| AK289604.1 | 17 | 2227 | ||
| AL834176.1 | 5 | 1685 | CAD38873.2 | |
| BC014140.2 | 17 | 2227 | AAH14140.1 | |
| BM982214.1 | 1 | 455 | ||
| DB316257.1 | 1 | 478 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv833243 | Chr.16:56375371 - 56549461 on Build GRCh38 | Gain |
 AMFR
OGFOD1
NUDT21
BBS2
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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